G7E (p.Gly7Glu) variant of MTHFR (P42898)
G7E (p.Gly7Glu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- cosmic curated COSV10609
- TOPMed rs925247064
- gnomAD rs925247064
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available